Mitochondrial diseases, affecting an estimated 1.5 million individuals globally (approximately 1 in 5,000), represent a complex group of rare genetic disorders driven by mitochondrial dysfunction, disrupting cellular energy production. These conditions stem from mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA), leading to a spectrum of mitochondrial disease symptoms, including myopathy, seizures, optic atrophy, hearing loss, and metabolic imbalances, with variable onset from infancy to adulthood. Diagnosis is challenging, often requiring advanced genetic testing, muscle biopsies, or biochemical assays, compounded by symptom overlap with other neurological ...
